Studies on the molecular mechanism of GM(2) gangliosidosis.
- Author:
Lin HOU
1
;
Ohno KOUSAKU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Blotting, Western; Cells, Cultured; Child, Preschool; Female; Gangliosidoses, GM2; enzymology; pathology; Hexosaminidase A; Hexosaminidase B; Humans; Infant; Male; Protein Subunits; metabolism; beta-N-Acetylhexosaminidases; metabolism
- From: Chinese Journal of Medical Genetics 2003;20(2):103-106
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo study the molecular mechanism of GM(2) gangliosidosis.
METHODSThe skin fibroblasts from 4 patients with GM(2) gangliosidosis were subjected to culture. Enzyme activities assay, Western blot and immunocytochemical analysis were performed using the cultured fibroblasts.
RESULTSThe hexosaminidase (Hex) activities of 4 patients with GM(2) gangliosidosis were significantly decreased. The activities were 12% 3% 15% and 6% of control values, respectively. Western blot analysis indicated that the amount of Hex mature alpha- and beta- subunits (alpha m, beta m) was decreased in cells from patients 2 and 3, but only decreased alpha m was found in patient 1 and both alpha m and beta m were normal in cells from patient 4. Immunocytochemical analysis revealed the accumulated GM(2) ganglioside in cells from patients 1-4.
CONCLUSIONThe pathogenesis of GM(2) gangliosidosis was associated with deficiency of Hex alpha m and beta m and GM(2) activator caused by HEXA, HEXB and GM(2)A gene mutations.
